ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.833C>T (p.Pro278Leu) (rs748031634)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000210885 SCV000264601 uncertain significance Multiple fibrofolliculomas 2015-12-01 criteria provided, single submitter research
Invitae RCV000210885 SCV000957949 uncertain significance Multiple fibrofolliculomas 2018-11-11 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 278 of the FLCN protein (p.Pro278Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs748031634, ExAC 0.002%). This variant has not been reported in the literature in individuals with FLCN-related disease. ClinVar contains an entry for this variant (Variation ID: 225284). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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